Clinical and research tests for C1842028 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MYOC gene mutation analysis Genetics and Molecular Pathology SA Pathology Australia	1	1	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
MYOC - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Glaucoma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	57	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glaucoma 1A, primary open angle, 137750, Autosomal dominant; GLC1A (Juvenile glaucoma) (MYOC gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Glaucoma Panel PreventionGenetics, part of Exact Sciences United States	38	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Primary Open Angle Glaucoma via the MYOC Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MYOC mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	1	1	C Sequence analysis of the entire coding region
Glaucoma panel. 18-gene NGS panel. Genologica Medica Spain	44	18	C Sequence analysis of the entire coding region
MYOC gene testing Duzen Laboratories Duzen BBAGUAS Turkey	1	1	C Sequence analysis of the entire coding region
MYOC Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
MYOC Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
MYOC Sequence Analysis (Prenatal Sequence Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Optic Atrophy & Early Glaucoma NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	40	34	C Sequence analysis of the entire coding region
GLAUCOMA, OPEN ANGLE Laboratorio de Genetica Clinica SL Spain	5	5	C Sequence analysis of the entire coding region
GLAUCOMA, JUVENILE Laboratorio de Genetica Clinica SL Spain	2	2	C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.